Desmin – related restrictive cardiomyopathy (RCD code: III-3E)
Journal Title: Journal of Rare Cardiovascular Diseases - Year 2013, Vol 1, Issue 5
Abstract
Desmin – related myopathy is a chronic neuromuscular disorder caused by a mutation of desmin, an intermediate filament of the myocardial, skeletal, and smooth muscles. Clinical manifestations include skeletal myopathy, cardiac abnormalities, conduction disorders, or various types of arrhythmias. We present a case of a 33‑year‑old male with an end – stage restrictive cardiomyopathy and peripheral muscles myopathy caused by desmin mutation. JRCD 2013; 1 (5): 20–24
Authors and Affiliations
Jakub Stępniewski, Grzegorz Kopeć, Piotr Wilkołek, Paweł Rubiś, Bartosz Sobień
Introduction
Introduction
Patent ductus arteriosus recanalization following its successful surgical closure (RCD code: IV-2B.4)
Patent ductus arteriosus (PDA) is rarely diagnosed late in adult life, and frequently in children as an isolated disorder or complex congenital heart defect. PDA represents an anomaly defined by the communication between...
Concussion of an athlete ́s heart – a case report of blunt chest trauma‐associated loss of consciousness in a professional soccer player (RCD code: V-4O)
We present a case of cardiac concussion (commotio cordis) resulting from blunt chest trauma injury in a professional athlete. The soccer player received frontal injury to the chest caused by another player’s knee during...
Highlights from EuroEcho-Imaging 2016 Congress of the European Society of Cardiology, Leipzig, Germany.
EuroEcho-Imaging is the annual meeting of the European Association of Cardiovascular Imaging (EACVI), that attracts participants from all over the world with all modalities of cardiovascular non-invasive imaging. This ti...
Journal of Rare Cardiovascular Diseases: All that glitters is not gold. Randomized Controlled Trails versus real‑life patients: Challenges of a maturing Journal
Dear Readers,Is time friend or foe? No one has the right answer. With this issue, we are celebrating an important landmark in the Journal’s history. On this occasion, we have looked back at our first two years with a pin...